Varaico: Literature-Extracted Genetic Variants

PCDHGA7

79 papers

RefSeq Summary

This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggestin...

Pfam Domains

Cadherin_2aa 30–112UCSCCadherin-like

Cadherinaa 138–233UCSCCadherin domain

Cadherinaa 247–338UCSCCadherin domain

Cadherinaa 352–443UCSCCadherin domain

Cadherinaa 457–553UCSCCadherin domain

Cadherinaa 578–665UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin gamma subfamily A, 7

HGNC Alias Symbol

PCDH-GAMMA-A7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018920.4

p.R467delFs

c.1401delA

Surrounding Variants

1 paper

NM_018920.4

p.R467fs

c.1399_1400fs

1 paper

NM_018920.4

p.P450L

c.1349C>T

1 paper

NM_018920.4

p.L491S

c.1472T>C

1 paper

NM_018920.4

p.T495T

c.1485C>A

1 paper

NM_018920.4

p.G512V

c.1535G>T

1 paper

NM_018920.4

p.S519S

c.1557C>A

1 paper

NM_018920.4

p.T414A

c.1240A>G

1 paper

NM_018920.4

p.N400S

c.1199A>G

1 paper

NM_018920.4

p.D536N

c.1606G>A

1 paper

NM_018920.4

p.I386T

c.1157T>C

1 paper

NM_018920.4

p.T383A

c.1147A>G

1 paper

NM_018920.4

p.V552M

c.1654G>A